A Rare Disease, A Breath of Fresh Air

Friends raise funds to support Potomac doctor who needs a double lung transplant.

As a doctor, Cathy Cantilena can talk about her condition objectively, even clinically. She wouldn’t tell a patient in her current situation that everything’s going to be all right.

“I know all too well the enormity of the lung transplant surgery,” said Cantilena, who is in critical need of a double-lung transplant due to the rare cancer-like lung disease Lymphangioleiomyomatosis, known as LAM. “But there is no choice. I either die without the surgery, or I get the surgery. There is no choice.”

AS A WIFE and mother struggling with life-threatening illness, Cantilena feels no different from what one would expect.

"It’s kind of scary. It’s a scary thing,” she said.

Cantilena is living in a hotel in Durham, N.C., and awaiting transplant surgery at Duke University Medical Center, a world leader in lung transplants. On Feb. 24, she was “activated,” meaning that she is atop the list of eligible organ recipients in the program and that she could be called into the surgery at any time—whenever a suitable donor is found. The average time from activation to lung transplant surgery is eight days.

Five years ago, Cantilena, who lives in Potomac with her husband Lou Cantilena and four children, ages 8, 13, 16 and 19, was leading the typically frenetic life of a working mother. She studied transfusion medicine at the National Institutes of Health, worked in a private medical practice and helped out at the American Red Cross in Baltimore. The family attends St. Elizabeth’s Catholic Church in Rockville and is well known in the Potomac youth sports community. Lou Cantilena coaches soccer and several of the children participate in competitive swim leagues.

When Cantilena developed a cough, she assumed she had caught a cold from one of her children. When the cough persisted, she feared she had pneumonia. A doctor recommended a chest X-ray and the image showed lung damage “you might expect from someone who had spent a long time smoking.”

Cantilena had never smoked.

Doctors, including NIH colleagues eventually diagnosed her with LAM, which is currently found in fewer than 1,000 people in the United States, almost exclusively women of child-bearing age. The disease is thought to be the result of a genetic mutation, with no known environmental cause. Besides transplant surgery, there is no effective treatment and no known cure for LAM.

The disease is not a type of cancer but like cancer is characterized by the uncontrolled growth of harmful cells. The cells eventually block airways and make breathing impossible.

Cantilena’s health deteriorated slowly at first and then more rapidly, falling off sharply in the last year. Already petite, her weight dropped to 90 pounds. She could walk increasingly shorter distances and became exhausted from simple tasks.

“I couldn’t wash my hair,” she said. “It was like running a marathon race every day.”

CANTILENA GAVE up full-time work and after researching treatment options, joined the Duke program, which includes both pre- and post-operative treatment. Lou Cantilena has taken leave from his job at the Department of Defense and the Cantilenas’ oldest daughter has suspended her studies at Villanova University to be with the family in North Carolina. Anna, 8, is being home-schooled and the two middle children are still in school in the Washington area and staying with relatives, but are ready to come to Durham at a moment’s notice.

If Cantilena’s surgery is successful, she will have to live in a sterile environment — free of dust and mold — for some five months following the surgery.

All of that means not just an emotional but a financial strain on the family, which has prompted friends of the family to establish a support fund.

“All they care about is their kids,” said Kimberly Kempa, a parent at the Barnesville School, where Anna Cantilena is a second-grader. “They’re all about kids and all about family. They’re even a couple that renewed their vows. I don’t know a lot of people that do that.”

“I really admire the family,” said Jaralyn Hough, Barnesville’s Head of School. “They embraced the whole community. And now the community is embracing them.”

Barnesville parents have organized several fund-raisers, including a Family Fun Night March 18 that is open to the public (see box).

A group of parents at another school are collectively donating $2,000-$3,000 per month to the medical fund while Cantilena is sick.

“We obviously have Cathy on our prayer list,” said Kathryn Swartz, a pastoral associate at St. Elizabeth’s, where Cathy was a Eucharistic minister before she became ill. In addition, the church will take up a special collection for the medical fund at its Ash Wednesday service March 1.

IF THE Cantilenas’ communities seem eager to help, it is because the family was selflessly involved in them for years, Kempa said. Potomac residents have not only made financial donations, but taken over care of the Cantilenas’ house and pets, and pitched in taking care of the children.

“They’re astounding, astounding people. I’m humbled, really humbled to have such wonderful friends,” said Cantilena, who can only speak in short spurts due to her limited lung capacity. “The goodness in people is so astounding to me. I’m overwhelmed. I can’t begin to express the feeling.

Our friends in Potomac and in Barnesville and at home have been so supportive.”

LYMPHANGIOLEIOMYOMATOSIS

The following is excerpted from the Canadian Lung Association’s Web site at www.lung.ca/diseases/lymphan.html. Learn more there and through the LAM Association, on-line at http://lam.uc.edu:

Lymphangioleiomyomatosis (LAM) is a rare lung disease characterized by an unusual type of muscle cell that invades the tissue of the lungs. Over time, these muscle cells form into bundles and grow into the walls of the airways, and blood and lymph vessels, causing them to become obstructed.

Although these cells are not considered cancerous, they act somewhat like cancer cells in that they grow uncontrollably throughout the lung. Over time, the muscle cells block the flow of air, blood, and lymph to and from the lungs, preventing the lungs from providing oxygen to the rest of the body.

LAM affects almost exclusively women of childbearing age. The cause of LAM is not known, though recent research links it to gene mutations connected to tuberous sclerosis, an inherited disease.